This case study over time describes five years of experience with interventions to improve laboratory test utilization at an academic medical center. The high-frequency laboratory tests showing the biggest declines in order volume post intervention were serum albumin (36%) and erythrocyte sedimentation rate (17%). Introduction of restrictions for 170 high-cost send-out tests resulted in a 23% decline in order volume. Targeted interventions reduced mis-orders involving several “look-alike” tests: 1,25-dihydroxyvitamin D, 25-hydroxyvitamin D; manganese, magnesium; beta-2-glycoprotein, beta-2-microglobulin. Lastly, targeted alerts reduced duplicate orders of germline genetic testing and orders of hepatitis B surface antigen within 2 weeks of hepatitis B vaccination.Electronic supplementary materialThe online version of this article (doi:10.1186/s12911-015-0137-7) contains supplementary material, which is available to authorized users.

Congenital nephrotic syndrome in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital nephrotic syndrome in a multi-system syndrome is less common. We describe an infant with deteriorating neurological status, seizures, edema, and proteinuria who was found to have a mutation in ALG1 and a renal biopsy consistent congenital nephrotic syndrome. Furthermore, we briefly review rare existing case reports documenting congenital nephrotic syndrome in patients with ALG1 and treatment strategies, including novel use of peritoneal dialysis.

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